Whole genome-sequencing uncovers new genetic cause for osteoporosis

The Centre for Genomic and Experimental Medicine’s Professor Stuart Ralston and Dr Nerea Alonso, have been involved in an important study which has identified a novel gene that is implicated in osteoporosis, offering a potential target for treatment: September 2015

The Centre for Genomic and Experimental Medicine’s Professor Stuart Ralston and Dr Nerea Alonso, have been involved in an important study which has identified a novel gene that is implicated in osteoporosis, offering a potential target for treatment.

This discovery, recently published in Nature, utilised extensive genetic data from one of the world's largest data sets, the UK10K project, to identify a genetic variant near the gene EN1. The team identified this uncommon variant as having an effect twice as strong as any previously investigated genetic variants on bone mineral density (BMD) and fracture.

Osteoporosis is a common disease that will lead to fractures in between one-third and one-half of all women over the course of their lives. Because osteoporosis becomes more severe with age, it is becoming more prevalent with the overall aging of the population. There are currently few safe and effective treatments for osteoporosis, and no curative therapies available, which highlights the potential importance of this discovery. This is the first time EN1 has been linked to osteoporosis in humans, which opens up a brand new pathway to pursue in developing drugs to treat or block the disease.

This study represents an initial realisation of the hope that accompanied the development of genetic sequencing technology: that sophisticated analysis of the genome would reveal those genes associated with disease. The promise for the contribution genetics can make to human health lies in the discovery of novel compounds that can counter the effect of deleterious genetic variants influencing these genes.

“Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture”, Nature, 2015.

See also, “The UK10K project identifies rare variants in health and disease”, Nature, 2015.

The full Lady Davis Institute news article is on their website.